Canonical Allele Identifier: CA403639591

Gene: C3

Linked Data

• dbSNP Id: rs1967865636
• MyVariant Identifiers: chr19:g.6709834T>A (hg19) ; chr19:g.6709823T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709823T>A , CM000681.2:g.6709823T>A	GRCh38
NC_000019.9:g.6709834T>A , CM000681.1:g.6709834T>A	GRCh37
NC_000019.8:g.6660834T>A	NCBI36
NG_009557.1:g.15829A>T , LRG_27:g.15829A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1583A>T	ENSP00000512083.1:p.Gln528Leu
ENST00000695654.1:c.830A>T	ENSP00000512085.1:p.Gln277Leu
ENST00000695655.1:c.647A>T	ENSP00000512086.1:n.647A>T
ENST00000695692.1:n.1070A>T
ENST00000245907.11:c.1706A>T MANE Select	ENSP00000245907.4:p.Gln569Leu
ENST00000245907.10:c.1706A>T	ENSP00000245907.4:p.Gln569Leu
ENST00000600763.1:n.339A>T
NM_000064.3:c.1706A>T	NP_000055.2:p.Gln569Leu
NM_000064.4:c.1706A>T MANE Select	NP_000055.2:p.Gln569Leu